PIP
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Also known as GCDFP-15GCDFP15GPIP4SABPBRST-2
Summary
PIP (prolactin induced protein, HGNC:8993) is a protein-coding gene on chromosome 7q34, encoding Prolactin-inducible protein (P12273).
Enables IgG binding activity; aspartic-type endopeptidase activity; and identical protein binding activity. Involved in several processes, including detection of chemical stimulus involved in sensory perception of bitter taste; negative regulation of T cell apoptotic process; and proteolysis. Located in extracellular space and nucleus.
Source: NCBI Gene 5304 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 23 total
- MANE Select transcript:
NM_002652
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8993 |
| Approved symbol | PIP |
| Name | prolactin induced protein |
| Location | 7q34 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GCDFP-15, GCDFP15, GPIP4, SABP, BRST-2 |
| Ensembl gene | ENSG00000159763 |
| Ensembl biotype | protein_coding |
| OMIM | 176720 |
| Entrez | 5304 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000291009
RefSeq mRNA: 1 — MANE Select: NM_002652
NM_002652
CCDS: CCDS34768
Canonical transcript exons
ENST00000291009 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001047636 | 143139518 | 143139739 |
| ENSE00001047638 | 143132077 | 143132211 |
| ENSE00001047639 | 143135194 | 143135299 |
| ENSE00001047640 | 143139075 | 143139189 |
Expression profiles
Bgee: expression breadth ubiquitous, 179 present calls, max score 99.98.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 78.8617 / max 63138.3805, expressed in 113 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 81746 | 78.8617 | 113 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| seminal vesicle | UBERON:0000998 | 99.98 | gold quality |
| parotid gland | UBERON:0001831 | 99.96 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 99.95 | gold quality |
| trachea | UBERON:0003126 | 99.92 | gold quality |
| upper leg skin | UBERON:0004262 | 99.80 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 98.75 | gold quality |
| upper arm skin | UBERON:0004263 | 98.66 | gold quality |
| sperm | CL:0000019 | 98.64 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 98.21 | gold quality |
| skin of hip | UBERON:0001554 | 98.02 | gold quality |
| male germ cell | CL:0000015 | 97.41 | gold quality |
| mammary duct | UBERON:0001765 | 96.77 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 96.54 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 96.48 | gold quality |
| bronchial epithelial cell | CL:0002328 | 96.15 | gold quality |
| bronchus | UBERON:0002185 | 95.82 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 95.67 | gold quality |
| minor salivary gland | UBERON:0001830 | 95.56 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 93.46 | gold quality |
| skin of leg | UBERON:0001511 | 93.20 | gold quality |
| mammary gland | UBERON:0001911 | 92.15 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 92.14 | gold quality |
| zone of skin | UBERON:0000014 | 90.25 | gold quality |
| mouth mucosa | UBERON:0003729 | 89.46 | gold quality |
| skin of abdomen | UBERON:0001416 | 86.20 | gold quality |
| olfactory bulb | UBERON:0002264 | 84.84 | gold quality |
| type B pancreatic cell | CL:0000169 | 84.44 | gold quality |
| nipple | UBERON:0002030 | 83.62 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 83.22 | gold quality |
| nasopharynx | UBERON:0001728 | 83.20 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9841 | yes | 17066.34 |
| E-GEOD-75688 | yes | 1468.97 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| BCL2 | Activation |
Upstream regulators (CollecTRI, top): AR, RUNX2, SPI1
Literature-anchored findings (GeneRIF, showing 40)
- PIP(alternate name GCDFP-15, gp17) is a secretory marker of apocrine differentiation in breast carcinoma. It is an aspartyl proteinase with specificity restricted for fibronectin. (PMID:10713110)
- Intragenic amplification and formation of extrachromosomal small circular DNA molecules from the PIP gene on chromosome 7 in primary breast carcinomas (PMID:11992405)
- different conformations and/or tissue-specific posttranslational modifications of the proteins, although their primary structure was identical by MS/MS analysis (PMID:12755619)
- The sensitivity of mammaglobin is equal or superior to that of GCDFP-15 for investigation of breast carcinoma. (PMID:18251583)
- analysis of the novel complex formed between zinc alpha2-glycoprotein (ZAG) and prolactin-inducible protein (PIP) from human seminal plasma (PMID:18930737)
- Both MGB1 and GCDFP-15 are specific markers for metastatic breast carcinomas in cell block fluid specimens (88 vs. 96%). (PMID:19217055)
- importance of a regulatory subnetwork associated with PIP expression in which STAT5 appears as a potential transcriptional regulator (PMID:19262752)
- expressed on a small subset of primary lung adenocarcinomas (PMID:19620839)
- Most basal-like breast carcinomas and unclassified triple-negative carcinomas are negative for mammaglobin and gross cystic disease fluid protein 15. (PMID:21411781)
- Data suggest that Runx2 controls a positive feedback loop between androgen signaling and PIP, and pharmacological inhibition of PIP may be useful to treat PIP positive tumors. (PMID:21809344)
- abnormal development of the prepuce in hypospadias is associated with variation in PIP expression (PMID:21883842)
- The first report of native human serum albumin (HSA)-PIP complex formation in seminal plasma. (PMID:22209935)
- expression was down-regulated in azoospermia, indicating that PIP may be a plausible marker of azoospermia (PMID:22724438)
- Prolactin-induced protein mediates cell invasion and regulates integrin signaling in estrogen receptor-negative breast cancer. (PMID:22817771)
- Gross cystic disease fluid protein-15 and mammaglobin A expression determined by immunohistochemistry is of limited utility in triple-negative breast cancer. (PMID:22963676)
- GCDFP-15 alone is not a useful marker to detect the metastasis of basaloid type breast cancers. (PMID:23011826)
- Interaction analysis identifies semenogelin I fragments as new binding partners of PIP in human seminal plasma (PMID:23085372)
- GCDFP-15 was associated significantly with a breast cancer profile of good prognosis tumors. (PMID:23332923)
- we found that HER2 or GCDFP15 protein overexpression is a sensitive and specific tool to differentiate MA from BL in the context of ER negative tumors. (PMID:23663520)
- The roles of PIP in the related T47D breast cancer cell line, were investigated. (PMID:23755096)
- AZGP1 and PIP were found in significantly lower levels in invasive breast tissue. (PMID:24114735)
- Report GCDFP15 expression in metastatic basal-like triple negative breast carcinomas. (PMID:24272937)
- PIP is required for cell cycle progression in breast cancer and provides a rationale for exploring PIP inhibition as a therapeutic approach in breast cancer that can potentially target microtubule polymerization. (PMID:24862759)
- GCDFP-15 expression is higher in tumors with favorable prognostic features. GCDFP-15 expression is further a frequent feature of androgen receptor positive tumors and the molecular apocrine subtype. (PMID:25070172)
- Data indicate the potential role of Gross cystic disease fluid protein-15/prolactin-inducible protein (GCDFP-15/PIP) as a biomarker for keratoconus (KC)disease. (PMID:25405607)
- The commonly used breast carcinoma biomarkers vary in their prognostic implications. GCDFP-15 independently indicated a favourable prognosis. GATA-3 and MGB were not associated with outcome. (PMID:25425335)
- PIP is a breast cancer-related protein that is expressed in a majority of breast tumors and has a significant function in the biology of this disease. [review] (PMID:25472539)
- novel marker GATA3 stains a significantly higher proportion of both primary and metastatic breast carcinomas than GCDFP15 or mammaglobin with stronger and more diffuse staining, helpful in cases with small tissue samples (PMID:25906123)
- GCDFP15 in stratum corneum is a potential marker for dysregulated sweating in atopic dermatitis. (PMID:25919462)
- monoclonal antibodies to GATA-3 are very sensitive reagents for the identification of breast CA, surpassing antibodies to GCDFP-15 and mammaglobin A, and offer a significant improvement in identifying TNBCs (PMID:26447897)
- In summary, this study suggests that PIP expression regulates the process of cell adhesion in breast cancer. (PMID:26585492)
- High expression of GCDFP-15 is associated with molecular apocrine breast cancer. (PMID:26711786)
- While highly expressed under pathological conditions of the mammary gland, including breast cancers, PIP is expressed in very few other cancers. Although the function of PIP is not well elucidated, numerous studies suggest that its primary role may be related to host defense and immune modulation. Studies in Pip null mice suggest that PIP may play a similar immune-regulatory role in breast cancer. [Review] (PMID:27602994)
- good coincidence was observed between primary and metastatic tumor GATA3 expression (kappa value = 0.826 >0.75) as compared with the coincidence of GCDFP15 (kappa value =0.492 <0.75) and mammaglobin (kappa value =0.593 <0.75) (PMID:28038704)
- that GATA3 is a very sensitive marker for primary genital extramammary Paget diseases and is more sensitive than gross cystic disease fluid protein 15 (PMID:28693610)
- results suggest that PIP-positive and PIP-negative columnar cell lesions are likely to represent biologically distinct conditions and that apocrine changes might occur earlier than ER activation in the natural history of breast precursor lesions (PMID:29084054)
- GATA-3 expression was the highest in luminal breast carcinomas, and showed higher sensitivity than GCDFP-15 and MGB. However, in the poorly differentiated IBC, its utility was still limited. One should be aware of the possible GATA-3 expression in lung carcinomas. (PMID:29340880)
- Efficacy of GATA3 Versus BRST2 for the Identification of Metastatic Breast Carcinoma in the Upper GI Tract. (PMID:29629946)
- Unusual N-type glycosylation of salivary prolactin-inducible protein (PIP): multiple Lewis(Y) epitopes generate highly-fucosylated glycan structures. (PMID:29858715)
- Expression of hormone receptors, adipophilin, and GCDFP-15 in mucinous carcinoma of the skin. (PMID:30178542)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Pip | ENSMUSG00000058499 |
| rattus_norvegicus | Pip | ENSRNOG00000016076 |
Protein
Protein identifiers
Prolactin-inducible protein — P12273 (reviewed: P12273)
Alternative names: Gross cystic disease fluid protein 15, Prolactin-induced protein, Secretory actin-binding protein, gp17
All UniProt accessions (1): P12273
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Monomer. Interacts with AZGP1.
Subcellular location. Secreted.
Tissue specificity. Expressed in pathological conditions of the mammary gland and in several exocrine tissues, such as the lacrimal, salivary, and sweat glands.
Induction. By prolactin and androgen; inhibited by estrogen.
Similarity. Belongs to the PIP family.
RefSeq proteins (1): NP_002643* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007990 | PIP | Family |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR014756 | Ig_E-set | Homologous_superfamily |
Pfam: PF05326
UniProt features (17 total): strand 9, helix 2, disulfide bond 2, signal peptide 1, chain 1, modified residue 1, glycosylation site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3ES6 | X-RAY DIFFRACTION | 3.23 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P12273-F1 | 89.84 | 0.77 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 29
Disulfide bonds (2): 65–91, 89–123
Glycosylation sites (1): 105
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5223345 | Miscellaneous transport and binding events |
MSigDB gene sets: 107 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, GOBP_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_REGULATION_OF_T_CELL_APOPTOTIC_PROCESS, GOBP_DETECTION_OF_CHEMICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION_OF_TASTE, MARTINEZ_RB1_TARGETS_DN, GOBP_SENSORY_PERCEPTION_OF_TASTE, GOBP_NEGATIVE_REGULATION_OF_T_CELL_APOPTOTIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS, GOBP_LEUKOCYTE_APOPTOTIC_PROCESS, MODULE_524, MODULE_88
GO Biological Process (5): detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580), regulation of immune system process (GO:0002682), proteolysis (GO:0006508), positive regulation of gene expression (GO:0010628), negative regulation of T cell apoptotic process (GO:0070233)
GO Molecular Function (5): actin binding (GO:0003779), aspartic-type endopeptidase activity (GO:0004190), IgG binding (GO:0019864), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (4): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| detection of chemical stimulus involved in sensory perception of taste | 1 |
| sensory perception of bitter taste | 1 |
| immune system process | 1 |
| regulation of biological process | 1 |
| protein metabolic process | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| negative regulation of lymphocyte apoptotic process | 1 |
| T cell apoptotic process | 1 |
| regulation of T cell apoptotic process | 1 |
| cytoskeletal protein binding | 1 |
| endopeptidase activity | 1 |
| aspartic-type peptidase activity | 1 |
| immunoglobulin binding | 1 |
| protein binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
734 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PIP | AZGP1 | P25311 | 982 |
| PIP | KRT7 | P08729 | 845 |
| PIP | KRT20 | P35900 | 840 |
| PIP | CD4 | P01730 | 832 |
| PIP | LIAT1 | Q6ZQX7 | 810 |
| PIP | KEL | P23276 | 775 |
| PIP | PGR | P06401 | 714 |
| PIP | LTF | P02788 | 707 |
| PIP | GP6 | Q9HCN6 | 706 |
| PIP | APOD | P05090 | 700 |
| PIP | CST1 | P01037 | 696 |
| PIP | CEACAM5 | P06731 | 691 |
| PIP | CST4 | P01036 | 682 |
| PIP | KLK3 | P07288 | 682 |
| PIP | MME | P08473 | 669 |
IntAct
74 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDK19 | MED7 | psi-mi:“MI:0914”(association) | 0.800 |
| ATP5PF | ATP5PD | psi-mi:“MI:0914”(association) | 0.670 |
| AEBP2 | EED | psi-mi:“MI:0914”(association) | 0.650 |
| PIP | DNM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIP | TOR1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| DDX31 | IGLL5 | psi-mi:“MI:0914”(association) | 0.530 |
| PIP | TBKBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| SUN2 | PIP | psi-mi:“MI:0914”(association) | 0.530 |
| ESR2 | FBLL1 | psi-mi:“MI:0914”(association) | 0.460 |
| MYL12B | psi-mi:“MI:0914”(association) | 0.460 | |
| FUS | DDX3X | psi-mi:“MI:0914”(association) | 0.430 |
| Uba1 | PIP | psi-mi:“MI:0915”(physical association) | 0.400 |
| Dynll1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Rab5c | PIP | psi-mi:“MI:0915”(physical association) | 0.400 |
| Cep290 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Bud13 | DDX39A | psi-mi:“MI:0915”(physical association) | 0.400 |
| NFKB1 | NFKB1 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| UBE3A | TXNL1 | psi-mi:“MI:0914”(association) | 0.350 |
| UBE3A | IGLC7 | psi-mi:“MI:0914”(association) | 0.350 |
| USP25 | ANXA1 | psi-mi:“MI:0914”(association) | 0.350 |
| USPL1 | ANXA1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGEF40 | ARHGEF11 | psi-mi:“MI:0914”(association) | 0.350 |
| CDC73 | RCCD1 | psi-mi:“MI:0914”(association) | 0.350 |
| TDRD3 | PTMA | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (204): PIP (Affinity Capture-MS), PIP (Affinity Capture-MS), PIP (Affinity Capture-MS), PIP (Affinity Capture-MS), PIP (Affinity Capture-MS), PIP (Affinity Capture-MS), PIP (Affinity Capture-MS), PIP (Affinity Capture-MS), PIP (Affinity Capture-MS), PIP (Affinity Capture-MS), PIP (Affinity Capture-MS), PIP (Affinity Capture-MS), PIP (Affinity Capture-MS), PIP (Affinity Capture-MS), PIP (Affinity Capture-MS)
ESM2 similar proteins: A0A144LVL3, A0A6B9L1A2, A0A885, A0A889, A0A890, A7L036, B1NRR0, B1PS79, B4PPU4, B4PPU5, B4Q3K8, B4QAF0, B5TTX7, F4IIZ9, O18845, O34498, P00587, P00588, P00589, P10334, P12273, P13304, P15405, P19400, P28898, P30659, P33738, P34310, P37990, P39718, P58440, P58443, P60989, Q01050, Q09120, Q18885, Q27384, Q2HY54, Q54P38, Q5ASI4
Diamond homologs: A0A885, A0A888, A0A889, A0A890, O70417, P02816, P12273, P60986, P60987, P60988, P60989, P60990
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 104 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Loss of Nlp from mitotic centrosomes | 5 | 12.2× | 8e-03 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 5 | 12.2× | 8e-03 |
| AURKA Activation by TPX2 | 5 | 11.7× | 8e-03 |
| Recruitment of NuMA to mitotic centrosomes | 6 | 10.8× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
23 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 11 |
| Likely benign | 5 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
466 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:143135186:A:AG | acceptor_gain | 1.0000 |
| 7:143135187:C:G | acceptor_gain | 1.0000 |
| 7:143135188:A:AG | acceptor_gain | 1.0000 |
| 7:143135189:A:G | acceptor_gain | 1.0000 |
| 7:143132212:G:GG | donor_gain | 0.9900 |
| 7:143135192:A:AG | acceptor_gain | 0.9900 |
| 7:143135193:G:GA | acceptor_gain | 0.9900 |
| 7:143135297:GTG:G | donor_gain | 0.9900 |
| 7:143139512:TTTCA:T | acceptor_loss | 0.9900 |
| 7:143139513:TTCAG:T | acceptor_loss | 0.9900 |
| 7:143139514:TCA:T | acceptor_loss | 0.9900 |
| 7:143139515:CA:C | acceptor_loss | 0.9900 |
| 7:143139516:A:AG | acceptor_gain | 0.9900 |
| 7:143139516:AG:A | acceptor_gain | 0.9900 |
| 7:143139517:G:GG | acceptor_gain | 0.9900 |
| 7:143139517:GG:G | acceptor_gain | 0.9900 |
| 7:143139517:GGA:G | acceptor_gain | 0.9900 |
| 7:143139517:GGAA:G | acceptor_gain | 0.9900 |
| 7:143135296:GGTG:G | donor_gain | 0.9800 |
| 7:143135297:GTGG:G | donor_gain | 0.9800 |
| 7:143135298:TGGT:T | donor_gain | 0.9800 |
| 7:143139190:G:GG | donor_gain | 0.9800 |
| 7:143139517:GGAAC:G | acceptor_gain | 0.9800 |
| 7:143132204:G:GT | donor_gain | 0.9700 |
| 7:143135193:GTC:G | acceptor_gain | 0.9700 |
| 7:143135299:GGTA:G | donor_gain | 0.9700 |
| 7:143135300:G:GG | donor_gain | 0.9700 |
| 7:143135295:TGGTG:T | donor_gain | 0.9600 |
| 7:143135296:GGTGG:G | donor_gain | 0.9600 |
| 7:143135297:GTGGT:G | donor_loss | 0.9600 |
AlphaMissense
956 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:143139173:G:C | W100C | 0.997 |
| 7:143139173:G:T | W100C | 0.997 |
| 7:143139171:T:A | W100R | 0.993 |
| 7:143139171:T:C | W100R | 0.993 |
| 7:143139093:A:C | S74R | 0.992 |
| 7:143139095:C:A | S74R | 0.992 |
| 7:143139095:C:G | S74R | 0.992 |
| 7:143139568:T:A | C123S | 0.992 |
| 7:143139569:G:C | C123S | 0.992 |
| 7:143139568:T:C | C123R | 0.991 |
| 7:143139569:G:A | C123Y | 0.987 |
| 7:143139088:T:A | L72H | 0.985 |
| 7:143139608:G:C | R136P | 0.985 |
| 7:143135271:T:A | V58D | 0.984 |
| 7:143139076:T:A | V68D | 0.984 |
| 7:143139532:G:C | A111P | 0.984 |
| 7:143139570:C:G | C123W | 0.984 |
| 7:143135277:C:T | T60I | 0.983 |
| 7:143139117:T:C | F82L | 0.983 |
| 7:143139119:T:A | F82L | 0.983 |
| 7:143139119:T:G | F82L | 0.983 |
| 7:143139138:T:C | C89R | 0.981 |
| 7:143135265:T:C | L56P | 0.980 |
| 7:143139536:C:A | A112D | 0.980 |
| 7:143135291:T:C | C65R | 0.979 |
| 7:143139172:G:C | W100S | 0.979 |
| 7:143139593:C:A | P131H | 0.979 |
| 7:143139138:T:A | C89S | 0.978 |
| 7:143139139:G:C | C89S | 0.978 |
| 7:143139542:T:A | V114D | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000035657 (7:143135968 G>A,C,T), RS1000167807 (7:143139274 G>A,C), RS1000418756 (7:143132915 T>C), RS1000442063 (7:143136411 A>G), RS1000630797 (7:143131731 G>T), RS1000641381 (7:143137554 A>G), RS1000733416 (7:143131128 C>T), RS1000764856 (7:143131370 A>G), RS1000777278 (7:143137784 C>T), RS1000808512 (7:143137584 T>C), RS1001279437 (7:143131191 C>A,G), RS1001568948 (7:143136818 C>G,T), RS1001598363 (7:143136465 C>G), RS1001635166 (7:143133362 C>A,T), RS1001967479 (7:143131898 C>T)
Disease associations
OMIM: gene MIM:176720 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003522_2 | Dermatomyositis | 7.000000e-07 |
| GCST005275_22 | Cancer | 3.000000e-07 |
| GCST006585_111 | Blood protein levels | 8.000000e-12 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | decreases expression | 2 |
| Tobacco Smoke Pollution | increases expression, affects expression | 2 |
| propionaldehyde | decreases expression | 1 |
| potassium persulfate | increases expression | 1 |
| methoxyacetic acid | increases expression | 1 |
| hydroxyflutamide | decreases reaction, increases expression, decreases expression | 1 |
| butylbenzyl phthalate | decreases expression | 1 |
| bicalutamide | increases expression, decreases expression, decreases reaction | 1 |
| abrine | decreases expression | 1 |
| Aldehydes | decreases expression | 1 |
| Allergens | decreases expression, affects cotreatment, increases abundance | 1 |
| Vehicle Emissions | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cadmium | affects binding | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Hydralazine | increases expression, affects cotreatment | 1 |
| Lead | affects binding | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Dihydrotestosterone | increases expression, increases reaction, decreases reaction | 1 |
| Valproic Acid | affects cotreatment, increases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Genistein | decreases expression, increases reaction, increases expression | 1 |
| Nanotubes, Carbon | decreases expression | 1 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cancer, dermatomyositis